612674.3.2

Algeria

Areflexia; Gait ataxia; Cerebellar vermis atrophy; Babinski sign

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Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001042472.3:c.846_852dup	2		Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract

Relative of 612674.3.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
612674.3.1	Algeria	Areflexia; Lower limb muscle weakness; Limb ataxia; Gait ataxia; Horizontal nystagmus; Dysarthria; Dysmetria; Delayed ability to walk; Action tremor; Cerebellar atrophy; Babinski sign	Male	Yes

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